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骨髓增生异常肿瘤:诊断、风险分层、分子发病机制和治疗的概述。

Myelodysplastic neoplasms: An overview on diagnosis, risk-stratification, molecular pathogenesis, and treatment.

机构信息

Research and Development Department, Hermes Pardini Institute, 2448 Nações Avenue, Vespasiano, Minas Gerais 33200-000, Brazil; Department of Clinical and Toxicological Analysis, Faculty of Pharmacy, Federal University of Minas Gerais, 6627 President Antônio Carlos Avenue, Belo Horizonte, Minas Gerais 31270-901, Brazil.

Department of Clinical and Toxicological Analysis, Faculty of Pharmacy, Federal University of Minas Gerais, 6627 President Antônio Carlos Avenue, Belo Horizonte, Minas Gerais 31270-901, Brazil.

出版信息

Biomed Pharmacother. 2022 Dec;156:113905. doi: 10.1016/j.biopha.2022.113905. Epub 2022 Oct 25.

DOI:10.1016/j.biopha.2022.113905
PMID:36306593
Abstract

Myelodysplastic neoplasms are clonal hematological malignancies arising from hematopoietic stem cells that accumulate various mutations. MDS is heterogeneous in nature but uniformly characterized by ineffective hematopoiesis, dysplasia of one or more cell lineages, and an increased risk of transformation to acute myeloid leukemia. Disease-related risk is commonly assessed using the Revised International Prognostic Scoring System based on five cytogenetic risk groups, together with refined categories for bone marrow blast percentage and number of cytopenias. Therapeutic options for patients with MDS vary from supportive care to allogeneic stem cell transplantation depending on the disease and patient-related risk factors. Despite great progress in understanding the molecular mechanisms underlying MDS, this knowledge has not yet been translated into the approval of a curative treatment.

摘要

骨髓增生异常肿瘤是起源于造血干细胞的克隆性血液系统恶性肿瘤,会积累各种突变。MDS 在本质上具有异质性,但普遍表现为无效造血、一个或多个细胞谱系发育不良,以及向急性髓系白血病转化的风险增加。通常使用基于五个细胞遗传学风险组的修订国际预后评分系统来评估疾病相关风险,同时对骨髓原始细胞百分比和细胞减少症的数量进行细化分类。MDS 患者的治疗选择因疾病和患者相关的危险因素而异,从支持性护理到异基因干细胞移植不等。尽管在理解 MDS 潜在分子机制方面取得了巨大进展,但这些知识尚未转化为批准的治疗方法。

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